title: Cytogenetic analysis of meiotic segregation in sperm from two males heterozygous for reciprocal translocations using PRINS and humster techniques.
abstract: The meiotic segregation patterns of 2 reciprocal translocations t(7;9)(q33;p21) and t(7;18)(q35;q11) were analyzed in sperm of 2 heterozygote carriers. Both sperm karyotyping and in situ PRINS labeling of sperm nuclei were performed on a sperm sample from each subject. Using the humster technique, 54 and 72 sperm chromosome complements were successfully analyzed for the t(7;9) and the t(7;18) respectively. The frequencies of alternate, adjacent 1, adjacent 2 and 3:1 segregations were 44.44%, 37.04%, 12.96% and 5.56% for the t(7;9) and 33.33%, 43.05%, 19.45% and 4.17% for the t(7;18). The PRINS procedure allowed the rapid screening of large samples of spermatozoa. However, alternate and adjacent 1 segregants were not discriminated because of the generation of centromeric signals. The segregation pattern was determined on 10,658 spermatozoa for the t(7;9) and 10,462 for the t(7;18). The distributions of segregants were similar to those obtained by sperm karyotyping. These data were pooled with results from 37 reciprocal translocations previously studied by sperm karyotyping and 6 recently investigated by FISH. The analysis of these compiled data demonstrates the particularity of the production of imbalances in male gametes; independent of the predisposition for a type of imbalance at term, there is a preferential production of adjacent 1 imbalance in sperm.
authors.affiliation: CNRS ERS 155, St. Charles Hospital, Montpellier, France. franck@xerxes.crbm.cnrs-mop.fr
authors.forename: F
authors.initials: F
authors.lastname: Pellestor
authors.forename: A
authors.initials: A
authors.lastname: Girardet
authors.forename: L
authors.initials: L
authors.lastname: Coignet
authors.forename: B
authors.initials: B
authors.lastname: Andréo
authors.forename: G
authors.initials: G
authors.lastname: Lefort
authors.forename: J P
authors.initials: JP
authors.lastname: Charlieu
mesh_terms: D000328:Adult; D000818:Animals; D002467:Cell Nucleus / Q000502:physiology; D002503:Centromere / Q000235:genetics; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D002897:Chromosomes, Human, Pair 7; D002899:Chromosomes, Human, Pair 9; D006224:Cricetinae; D004276:DNA, Satellite / Q000032:analysis; D005307:Fertilization in Vitro / Q000379:methods; D006579:Heterozygote; D006801:Humans; D008297:Male; D008540:Meiosis / Q000502:physiology*; D013094:Spermatozoa / Q000502:physiology*; D014178:Translocation, Genetic
chemical_list: D004276:DNA, Satellite